Wednesday, February 18, 2009

We may have found part of the answer to why Cicily is so "wobbly" and has irregular eye movements (nystagmus). Cicily had a 2nd MRI of her brain last week which showed she has hypomyelination of white matter - it's the coating on the brain which helps get signals to the places they need to go. It's developed between 0-3 years old. So in Cicily's first MRI at 1 year old, the lack of white matter wasn't very significant, but now at 28 months old, it was very notable.We still do not know why she is so deficient in white matter. Apparently it happens with certain genetic diseases or metabolic disorders. One of her neurologists has ordered a spinal tap to test her spinal fluid for various metabolic disorders and other cool, unusual things. So, we're anxiously awaiting the spinal tap and hoping it provides further answers. We're especially hoping the final diagnosis is treatable.We'll continue to work with Cicily's 2nd and 3rd neurologists and see a 4th soon as they all seem to have different areas of expertise and hopefully together they can figure out our adorable, enigmatic little lady.I was at first very nervous and upset about this new finding as it's affects can be pretty devastating. I actually feel good about it now though and have faith that in some way the many blessings Cicily has received will be realized. As I said before she was born, she'll grow up and be just fine, I just worry about what she'll have to go through to be fine. (I didn't have a tiny inkling of how much she would have to go through.)

Saturday, February 14, 2009

Cicily got a box of chocolates for Valentines today. Chris and I were outside for 3 mins. discussing where to plant our new passion fruit vine and walked back in the house to see Cicily in the midst of smashed chocolates all over the carpet and herself! She thought she was so cool, and so did we!!!

Friday, February 13, 2009

Cicily got her new BAHA last week!!! She's now the proud wearer of two hearing aids on her headband- one on each side. We've been working on getting this additional BAHA since last May, so we're very excited! Theoretically this gives her a higher hearing threshold and some directional hearing. All I know is now she can hear me when I'm suctioning her trach and when I whisper to her at church. In fact, Cicily hears better than I do now! At her hearing test this past Tuesday she heard a very low tone that I didn't even hear. (So, good that Cis hears SO well, and kinda bad that I hear less than my girl with a hearing loss!) :)

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Cicily at 8 years old

About Cicily

Cicily has degenerative hypomyelination (leukodystrophy) - no white matter coating her brain, which is terminal. For Cicily, this means she has limited motor control and "shakey" movements. It does not affect Cicily's cognitive abilities, as she communicates and learns at a standard level for her age.

Cicily also has Treacher Collins Syndrome. For Cicily this basically means she was born with a cleft palate, small lower jaw, small ears, and no ear canals.

Cis is such a tough girl though, and she's so easy going. She handles all of her difficulties so well. She's certainly up for her challenges! She continues to be a medical mystery and a joyful girl.